A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975205



Internal ID50857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154028777..154028828hg38UCSC Ensembl
chr5:153408337..153408388hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5401064
Supporting Variants
Samples
Known GenesFAM114A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975205
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer